-
1
-
-
0020619770
-
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
-
Boughman JA, Vernon M, Shaver KA: Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chron Dis 1983;36:595-603.
-
(1983)
J Chron Dis
, vol.36
, pp. 595-603
-
-
Boughman, J.A.1
Vernon, M.2
Shaver, K.A.3
-
2
-
-
0027058632
-
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
-
Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, Munnich A: A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992;14:979-987.
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
Rozet, J.M.4
Delrieu, O.5
Briard, M.L.6
Dollfus, H.7
Ghazi, I.8
Dufier, J.L.9
Frézal, J.10
Munnich, A.11
-
3
-
-
0027422082
-
Genetic heterogeneity of Usher syndrome type II
-
Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JMR, Pikus A, Möller C: Genetic heterogeneity of Usher syndrome type II. J Med Genet 1993;30:843-848.
-
(1993)
J Med Genet
, vol.30
, pp. 843-848
-
-
Pieke Dahl, S.1
Kimberling, W.J.2
Gorin, M.B.3
Weston, M.D.4
Furman, J.M.R.5
Pikus, A.6
Möller, C.7
-
4
-
-
0028226978
-
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
-
Keats BJB, Nouri N, Pelias MZ, Deininger PL, Litt M: Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994;54:681-686.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 681-686
-
-
Keats, B.J.B.1
Nouri, N.2
Pelias, M.Z.3
Deininger, P.L.4
Litt, M.5
-
5
-
-
0028815440
-
Defective myosine VIIA gene responsible for Usher syndrome type IB
-
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Welsh J, Mburu P, Varela A, Levillers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SCM, Petit C: Defective myosine VIIA gene responsible for Usher syndrome type IB. Nature 1995;374:60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Welsh, J.6
Mburu, P.7
Varela, A.8
Levillers, J.9
Weston, M.D.10
Kelley, P.M.11
Kimberling, W.J.12
Wagenaar, M.13
Levi-Acobas, F.14
Larget-Piet, D.15
Munnich, A.16
Steel, Kp.17
Brown, S.C.M.18
Petit, C.19
-
6
-
-
0028795018
-
Gene mapping of Usher syndrome type IIa: Localization of the gene to a 2.1-cM segment on chromosome lq41
-
Kimberling WJ, Weston MD, Möller C, van Aarem A, Cremers CWRJ, Sumegi J, Ing PS, Connolly C, Martini A, Milani M, Tamayo ML, Bernal J, Greenberg J, Ayuso C: Gene mapping of Usher syndrome type IIa: Localization of the gene to a 2.1-cM segment on chromosome lq41. Am J Hum Genet 1995;56: 216-223.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 216-223
-
-
Kimberling, W.J.1
Weston, M.D.2
Möller, C.3
Van Aarem, A.4
Cremers, C.W.R.J.5
Sumegi, J.6
Ing, P.S.7
Connolly, C.8
Martini, A.9
Milani, M.10
Tamayo, M.L.11
Bernal, J.12
Greenberg, J.13
Ayuso, C.14
-
7
-
-
0028836898
-
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
-
Sankila E-M, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A: Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995;4:93-98.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 93-98
-
-
Sankila, E.-M.1
Pakarinen, L.2
Kääriäinen, H.3
Aittomäki, K.4
Karjalainen, S.5
Sistonen, P.6
De La Chapelle, A.7
-
8
-
-
0029798669
-
Localization of the Usher syndrome type ID gene (UshlD) to chromosome 10
-
Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJH: Localization of the Usher syndrome type ID gene (UshlD) to chromosome 10. Hum Mol Genet 1996;10:1689-1692.
-
(1996)
Hum Mol Genet
, vol.10
, pp. 1689-1692
-
-
Wayne, S.1
Der Kaloustian, V.M.2
Schloss, M.3
Polomeno, R.4
Scott, D.A.5
Hejtmancik, J.F.6
Sheffield, V.C.7
Smith, R.J.H.8
-
9
-
-
0031032971
-
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
-
Chaïb H, Kaplan J, Gerber S. Vincent C, Wyadi H, Slim R, Munnich A, Weissenbach J, Petit C. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Human Mol Genet 1997;6:27-31.
-
(1997)
Human Mol Genet
, vol.6
, pp. 27-31
-
-
Chaïb, H.1
Kaplan, J.2
Gerber, S.3
Vincent, C.4
Wyadi, H.5
Slim, R.6
Munnich, A.7
Weissenbach, J.8
Petit, C.9
-
10
-
-
0346210139
-
Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
-
Levy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D: Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 1997:6: 111-116.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 111-116
-
-
Levy, G.1
Levi-Acobas, F.2
Blanchard, S.3
Gerber, S.4
Larget-Piet, D.5
Chenal, V.6
Liu, X.Z.7
Newton, V.8
Steel, K.P.9
Brown, S.D.10
Munnich, A.11
Kaplan, J.12
Petit, C.13
Weil, D.14
-
12
-
-
0027409796
-
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers
-
Bonneau D, Raymond F, Kremer C, Klossek J-M, Kaplan J, Patte F: Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. J Med Genet 1993; 30:253-254.
-
(1993)
J Med Genet
, vol.30
, pp. 253-254
-
-
Bonneau, D.1
Raymond, F.2
Kremer, C.3
Klossek, J.-M.4
Kaplan, J.5
Patte, F.6
-
13
-
-
0028787263
-
Expression in cochlea and retina of myosine VIIa, the gene product defective in Usher syndrome type IB
-
Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS: Expression in cochlea and retina of myosine VIIa, the gene product defective in Usher syndrome type IB. Proc Natl Acad Sci USA 1995;92:9815-9819.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9815-9819
-
-
Hasson, T.1
Heintzelman, M.B.2
Santos-Sacchi, J.3
Corey, D.P.4
Mooseker, M.S.5
-
14
-
-
9244233852
-
Human myosin VIIA responsible for the Usher IB syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
-
Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C: Human myosin VIIA responsible for the Usher IB syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci USA 1996;93:3232-3237.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 3232-3237
-
-
Weil, D.1
Levy, G.2
Sahly, I.3
Levi-Acobas, F.4
Blanchard, S.5
El-Amraoui, A.6
Crozet, F.7
Philippe, H.8
Abitbol, M.9
Petit, C.10
-
15
-
-
0025995563
-
Vero cells stimulate human sperm motility in vitro
-
Wetzels AMM, Bastiaans BA. Goverde HJM, Janssen HJG, Rolland R: Vero cells stimulate human sperm motility in vitro. Fertil Steril 1991;56:535-539.
-
(1991)
Fertil Steril
, vol.56
, pp. 535-539
-
-
Wetzels, A.M.M.1
Bastiaans, B.A.2
Goverde, H.J.M.3
Janssen, H.J.G.4
Rolland, R.5
-
16
-
-
0029780071
-
Genetic heterogeneity of Usher syndrome type II in a Dutch population
-
Pieke-Dahl S, Aarem van A, Dobin A, Cremers CWRJ, Kimberling WJ: Genetic heterogeneity of Usher syndrome type II in a Dutch population. J Med Genet 1996;33:753-757.
-
(1996)
J Med Genet
, vol.33
, pp. 753-757
-
-
Pieke-Dahl, S.1
Aarem Van, A.2
Dobin, A.3
Cremers, C.W.R.J.4
Kimberling, W.J.5
-
17
-
-
12644291217
-
Stable and progressive hearing loss in type 2A Usher's syndrome
-
van Aarem A, Huygen PLM, Pinckers AJLG, Bleeker-Wagemakers EM, Kimberling WJ, Cremers CWRJ: Stable and progressive hearing loss in type 2A Usher's syndrome. Ann Otol Rhinol Laryngol 1996;105:962-967.
-
(1996)
Ann Otol Rhinol Laryngol
, vol.105
, pp. 962-967
-
-
Van Aarem, A.1
Huygen, P.L.M.2
Pinckers, A.J.L.G.3
Bleeker-Wagemakers, E.M.4
Kimberling, W.J.5
Cremers, C.W.R.J.6
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